Community Driven Innovation

Genetic Alliance

Community Driven Innovation

Equipping parents of undiagnosed children with next-gen tools to get a diagnosis, manage data, and discover interventions and solutions.

Damascus, MD, USA

USA

Hybrid of for-profit and nonprofit

Rare genetic diseases affect an estimated 250 million people worldwide, with half of diagnosed children not surviving beyond their fifth birthday. The burden is particularly severe in low- and middle-income countries (LMICs), where specialized medical care is scarce, diagnostic tools remain inaccessible, and financial barriers delay or prevent critical interventions. Despite the identification of over 7,000 rare diseases, only about 5% have approved treatments. Access to existing therapies is even more limited in LMICs due to cost, regulatory barriers, and supply chain challenges. Traditional research and innovation models, primarily driven by high-income countries, have failed to provide timely or equitable solutions, further marginalizing underserved populations. A significant challenge in rare disease diagnosis and treatment development is the fragmented and proprietary nature of health and genomic data. Much of this information is siloed within institutions and corporations, limiting its use for public or community-driven research. Without access to aggregated genomic data, clinical insights, and lived experiences, families, researchers, and clinicians struggle to identify patterns that could drive new treatments and improve patient outcomes. The lack of accessible diagnostic technologies further exacerbates disparities, leaving millions of children without answers or effective treatment options.

Our solution provides children with undiagnosed or rare diseases with a secure, AI-driven platform to manage genomic and clinical data, enabling them to drive solutions. Just as regions bypassed landline infrastructure to adopt mobile technology, crowdsourced, long-tail solutions can transform healthcare by accelerating access to knowledge and interventions. Parents register in Digital Cabinet, a privacy-compliant storage system where they securely store and control their child’s medical records, genomic data, and clinical history. Through the iHope Genetic Health program, participating families receive free whole genome and exome clinical testing, ensuring comprehensive diagnostic insights. Parents retain full control over their child’s resulting genomic data. They can choose to share it with researchers, clinicians, or other families facing similar challenges. This model shifts power from institutions to individuals, making families stewards of their own data. To accelerate research, Aretetic and Genetic Alliance use Community-Driven Innovation (CDI) to identify parents’ priorities and guide collaborative efforts. CDI leverages next-generation AI to analyze shared data, uncovering patterns, synergies, and actionable pathways toward improved treatments and quality of life. This decentralized, community-led approach breaks down data silos, amplifies lived experiences, and fosters breakthroughs driven by the needs of affected families rather than traditional institutional gatekeepers.

We serve children with undiagnosed or rare genetic diseases, their families, and the broader community. Globally, over 300 million individuals live with a rare disease, affecting approximately 10% of the population. In the United States, about 30 million people—half of them children—are affected by rare diseases. These conditions lead to significant disabilities and premature death. Families experience immense emotional and financial strain, with parents facing reduced ability to support their families as they navigate complex healthcare systems in search of answers. We provide whole genome and exome clinical testing, ensuring children receive accurate diagnoses from clinicians. A diagnosis leads to changes in clinical management, improving quality of life and, in some cases, preventing further disease progression. For those with available treatments, we facilitate access to therapies, overcoming financial and logistical barriers. For conditions without existing treatments, parents share their child’s data through Digital Cabinet, encouraging collaboration and driving the initiation of clinical trials. Community Driven Innovation connects families with others facing similar challenges, enabling them to learn from shared experiences and identify effective strategies. We also link families to resources, advocacy organizations, and social support within their country and region, ensuring they receive comprehensive care and assistance.